← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-80516297-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80516297&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 80516297,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030927.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_030927.4",
"protein_id": "NP_112189.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429989.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030927.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000429989.8",
"protein_id": "ENSP00000396270.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030927.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429989.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Val222Ile",
"transcript": "ENST00000372164.7",
"protein_id": "ENSP00000361237.3",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 253,
"cds_start": 664,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372164.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "ENST00000714439.1",
"protein_id": "ENSP00000519708.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 284,
"cds_start": 757,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714439.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "ENST00000910484.1",
"protein_id": "ENSP00000580543.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 284,
"cds_start": 757,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910484.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "ENST00000910486.1",
"protein_id": "ENSP00000580545.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 284,
"cds_start": 757,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910486.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001351266.2",
"protein_id": "NP_001338195.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351266.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001351267.4",
"protein_id": "NP_001338196.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351267.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001351268.2",
"protein_id": "NP_001338197.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351268.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001351269.2",
"protein_id": "NP_001338198.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351269.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001351270.2",
"protein_id": "NP_001338199.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351270.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001351271.2",
"protein_id": "NP_001338200.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351271.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001351272.2",
"protein_id": "NP_001338201.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351272.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000372156.5",
"protein_id": "ENSP00000361229.1",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372156.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000372158.6",
"protein_id": "ENSP00000361231.1",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372158.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000714437.1",
"protein_id": "ENSP00000519706.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714437.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000714440.1",
"protein_id": "ENSP00000519709.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714440.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000714441.1",
"protein_id": "ENSP00000519710.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714441.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000714442.1",
"protein_id": "ENSP00000519711.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714442.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000714443.1",
"protein_id": "ENSP00000519712.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714443.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000714444.1",
"protein_id": "ENSP00000519713.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714444.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000714445.1",
"protein_id": "ENSP00000519714.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714445.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910475.1",
"protein_id": "ENSP00000580534.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910475.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910476.1",
"protein_id": "ENSP00000580535.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910476.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910478.1",
"protein_id": "ENSP00000580537.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910478.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910479.1",
"protein_id": "ENSP00000580538.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910479.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910487.1",
"protein_id": "ENSP00000580546.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910487.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910489.1",
"protein_id": "ENSP00000580548.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910489.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910490.1",
"protein_id": "ENSP00000580549.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910490.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910491.1",
"protein_id": "ENSP00000580550.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910491.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910492.1",
"protein_id": "ENSP00000580551.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910492.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910493.1",
"protein_id": "ENSP00000580552.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910493.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910494.1",
"protein_id": "ENSP00000580553.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910494.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910495.1",
"protein_id": "ENSP00000580554.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910495.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910496.1",
"protein_id": "ENSP00000580555.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910496.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910497.1",
"protein_id": "ENSP00000580556.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910497.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910498.1",
"protein_id": "ENSP00000580557.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910498.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910499.1",
"protein_id": "ENSP00000580558.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910499.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910500.1",
"protein_id": "ENSP00000580559.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910500.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910501.1",
"protein_id": "ENSP00000580560.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910501.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910502.1",
"protein_id": "ENSP00000580561.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910502.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910503.1",
"protein_id": "ENSP00000580562.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910503.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910504.1",
"protein_id": "ENSP00000580563.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910504.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910505.1",
"protein_id": "ENSP00000580564.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910505.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910506.1",
"protein_id": "ENSP00000580565.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910506.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910507.1",
"protein_id": "ENSP00000580566.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910507.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910508.1",
"protein_id": "ENSP00000580567.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910508.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910509.1",
"protein_id": "ENSP00000580568.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910509.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910510.1",
"protein_id": "ENSP00000580569.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910510.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000910511.1",
"protein_id": "ENSP00000580570.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910511.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000964935.1",
"protein_id": "ENSP00000634994.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964935.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000964937.1",
"protein_id": "ENSP00000634996.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964937.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000964938.1",
"protein_id": "ENSP00000634997.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964938.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000964940.1",
"protein_id": "ENSP00000634999.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964940.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000964941.1",
"protein_id": "ENSP00000635000.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964941.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000964942.1",
"protein_id": "ENSP00000635001.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964942.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000964943.1",
"protein_id": "ENSP00000635002.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964943.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Val222Ile",
"transcript": "ENST00000910481.1",
"protein_id": "ENSP00000580540.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 253,
"cds_start": 664,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910481.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Val216Ile",
"transcript": "ENST00000940595.1",
"protein_id": "ENSP00000610654.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 247,
"cds_start": 646,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940595.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Val213Ile",
"transcript": "ENST00000910483.1",
"protein_id": "ENSP00000580542.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 244,
"cds_start": 637,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910483.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Val213Ile",
"transcript": "ENST00000940593.1",
"protein_id": "ENSP00000610652.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 244,
"cds_start": 637,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940593.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Val213Ile",
"transcript": "ENST00000940597.1",
"protein_id": "ENSP00000610656.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 244,
"cds_start": 637,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940597.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Val213Ile",
"transcript": "ENST00000964936.1",
"protein_id": "ENSP00000634995.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 244,
"cds_start": 637,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964936.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Val213Ile",
"transcript": "ENST00000964939.1",
"protein_id": "ENSP00000634998.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 244,
"cds_start": 637,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964939.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Val209Ile",
"transcript": "ENST00000372157.6",
"protein_id": "ENSP00000361230.2",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 222,
"cds_start": 625,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372157.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Val190Ile",
"transcript": "ENST00000940596.1",
"protein_id": "ENSP00000610655.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 221,
"cds_start": 568,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940596.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "ENST00000714438.1",
"protein_id": "ENSP00000519707.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 215,
"cds_start": 550,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714438.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000341863.10",
"protein_id": "ENSP00000344076.6",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 213,
"cds_start": 544,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341863.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000910488.1",
"protein_id": "ENSP00000580547.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 213,
"cds_start": 544,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910488.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Val173Ile",
"transcript": "ENST00000910477.1",
"protein_id": "ENSP00000580536.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 204,
"cds_start": 517,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910477.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Val173Ile",
"transcript": "ENST00000910480.1",
"protein_id": "ENSP00000580539.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 204,
"cds_start": 517,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910480.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Val165Ile",
"transcript": "ENST00000910485.1",
"protein_id": "ENSP00000580544.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 196,
"cds_start": 493,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910485.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Val133Ile",
"transcript": "ENST00000910482.1",
"protein_id": "ENSP00000580541.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 164,
"cds_start": 397,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910482.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Val116Ile",
"transcript": "NM_001128309.3",
"protein_id": "NP_001121781.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 147,
"cds_start": 346,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128309.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Val116Ile",
"transcript": "ENST00000481124.5",
"protein_id": "ENSP00000418195.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 147,
"cds_start": 346,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481124.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Val116Ile",
"transcript": "ENST00000940594.1",
"protein_id": "ENSP00000610653.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 147,
"cds_start": 346,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940594.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "n.831G>A",
"hgvs_p": null,
"transcript": "ENST00000265450.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000265450.5"
}
],
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"dbsnp": "rs544427528",
"frequency_reference_population": 0.000035932713,
"hom_count_reference_population": 0,
"allele_count_reference_population": 58,
"gnomad_exomes_af": 0.0000376226,
"gnomad_genomes_af": 0.0000197057,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14852526783943176,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.0773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.286,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030927.4",
"gene_symbol": "TSPAN14",
"hgnc_id": 23303,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}